HEXB, hexosaminidase subunit beta, 3074

N. diseases: 62; N. variants: 49
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121907983
rs121907983 		0.882 0.120 5 74720648 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 17 1991 2013
dbSNP: rs28942073
rs28942073 		0.851 0.120 5 74718804 missense variant C/T snv 5.9E-04 4.5E-04
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 17 1991 2015
dbSNP: rs121907986
rs121907986 		0.882 0.160 5 74713584 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 9 1994 2018
dbSNP: rs121907982
rs121907982 		1.000 0.120 5 74718921 missense variant A/C snv 8.8E-05 4.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1991 1998
dbSNP: rs121907984
rs121907984 		1.000 0.120 5 74721131 missense variant G/A snv 8.6E-04 2.4E-04
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1991 1998
dbSNP: rs121907985
rs121907985 		0.925 0.120 5 74720644 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1991 1998
dbSNP: rs820878
rs820878 		1.000 0.120 5 74685445 missense variant T/C snv 0.97 0.97
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 10 1991 1998
dbSNP: rs201580118
rs201580118 		1.000 0.120 5 74720617 intron variant G/A;C snv 4.8E-05; 8.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 7 1989 2016
dbSNP: rs764552042
rs764552042 		1.000 0.120 5 74720731 missense variant C/T snv 3.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 6 2011 2016
dbSNP: rs761197472
rs761197472 		1.000 0.120 5 74689474 splice donor variant G/A;C;T snv 4.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 4 1994 2012
dbSNP: rs373979283
rs373979283 		1.000 0.120 5 74713530 missense variant T/G snv 2.0E-05 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2006 2013
dbSNP: rs5030731
rs5030731 		1.000 0.120 5 74715695 splice region variant G/A;C snv 4.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 3 2012 2014
dbSNP: rs1309123671
rs1309123671 		1.000 0.120 5 74718363 splice region variant G/A snv 4.0E-06 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1998 2013
dbSNP: rs1554035308
rs1554035308 		1.000 0.120 5 74696692 splice acceptor variant G/T snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2009 2015
dbSNP: rs779328596
rs779328596 		1.000 0.120 5 74718857 frameshift variant AG/- delins 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 1992 1994
dbSNP: rs794727091
rs794727091 		1.000 0.120 5 74720665 frameshift variant GA/- delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 2 2012 2016
dbSNP: rs1164691
rs1164691 		5 74721319 missense variant G/A;T snv 2.6E-05; 6.5E-06
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2018 2018
dbSNP: rs1554034452
rs1554034452 		1.000 0.120 5 74685406 stop gained C/A snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs1554036943
rs1554036943 		1.000 0.120 5 74718943 stop gained C/G snv
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2454846
rs2454846 		5 74663701 intron variant A/G snv 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs573447174
rs573447174 		1.000 0.120 5 74696733 stop gained T/C;G snv 4.1E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs753823903
rs753823903 		1.000 0.120 5 74693701 stop gained C/T snv 1.6E-05 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs761117459
rs761117459 		1.000 0.120 5 74689361 stop gained G/A;C snv 8.0E-06; 1.2E-05
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs768438206
rs768438206 		1.000 0.120 5 74715573 frameshift variant T/- del 7.0E-06
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs771973471
rs771973471 		1.000 0.120 5 74685430 frameshift variant G/-;GG delins
CUI: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012